GM
Gioia Mastromoro
Sapienza University of Rome, Università degli Studi di Roma La Sapienza Facoltà di Medicina e Odontoiatria
Research areas: Medicine · Pediatrics, Perinatology and Child Health · Genomics and Rare Diseases · Prenatal Screening and Diagnostics · Congenital Heart Disease Studies
0000-0003-0788-1683
Employment
Employment history is unavailable.
Education
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Sapienza University of Rome PhD in Human Biology and Medical Genetics2022 - 2025
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Università degli Studi di Roma La Sapienza Medical Genetics Residency2017 - 2021
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Università degli Studi di Roma La Sapienza Facoltà di Medicina e Odontoiatria Medicine and Surgery2010 - 2016
Projects & Funding
Projects & funding information is unavailable.
Publications (71)
- Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review Save
- Identification and functional study of a novel CTLA4 variant leads to targeted therapy with Abatacept in a case with complex phenotype and multiple monogenic conditions limiting conventional treatment Save
- Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain Save
- NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature Save
- Microduplication encompassing CCL2 segregates in a family with recurrent anencephaly and dorsal dermal sinus: a possible link between chemokine and neural tube defects? Save
- Cardiac Involvement and TBCK‐Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? Save
- Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding—A Comprehensive Review Save
- Molecular mechanisms and phenotypic correlations of rare forms of Neurofibromatosis type 1: mosaicisms, partial phenotypes and phenocopies Save
- Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations Save
- Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? Save
- Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review Save
- Identification and functional study of a novel CTLA4 variant leads to targeted therapy with Abatacept in a case with complex phenotype and multiple monogenic conditions limiting conventional treatment Save
- Microduplication encompassing CCL2 segregates in a family with recurrent anencephaly and dorsal dermal sinus: A possible link between chemokine and neural tube defects? Save
- Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B-Related Disorders: Case Series and Review of the Literature Save
- The dilemma of X-linked agammaglobulinemia (XLA) carriers: multicenter, retrospective cohort study on the reproductive choices of XLA families Save
- Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain Save
- Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations Save
- Copper Dysmetabolism is Connected to Epithelial-Mesenchymal Transition: A Pilot Study in Colorectal Cancer Patients Save
- Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B-Related Disorders: Case Series and Review of the Literature Save
- Classification of colorectal cancer patients based on serum micronutrients: An exploratory investigation Save